Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases

doi:10.11852/zgetbjzz2019-0584

Abstract

Abstract: This paper summarizes the current situation of inherited metabolic disease (IMD) screening for neonates in China,combs the influencing factors for screening results and the prominent problems in the screening process,such as unreasonable neonatal blood collection time,the non-standard screening index of cut-off value and low recall rate of positive screening newborns,thereby providing reference for the standardization of IMD screening for neonates in China.

Key words: newborn, inherited metabolic disease, screening

摘要： 本文概述了目前我国新生儿遗传代谢病(IMD)筛查的现状,主要对筛查结果的影响因素进行了归纳,并对筛查过程中存在的新生儿血片采集时间不合理、筛查指标切值不规范、筛查阳性新生儿召回率低等突出问题做了总结,旨在为我国新生儿IMD筛查工作的规范开展提供借鉴和参考。

关键词: 新生儿, 遗传代谢病, 筛查

CLC Number:

R722.1

ZHANG Yue, ZHAO Jun, GAO Hua-fang, MA Xu. Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases[J]. journal1, 2020, 28(3): 281-283.

张月, 赵君, 高华方, 马旭. 新生儿遗传代谢病筛查结果影响因素及存在问题研究进展[J]. 中国儿童保健杂志, 2020, 28(3): 281-283.

References

[1] Villoria JG,Pajares S,Lopez RM,et al.Neonatal screening for inherited metabolic diseases in 2016[J].Semin Pediatr Neurol,2016,23(4):257-272.
[2] 罗小平,梁雁.我国儿童遗传代谢病诊疗现状与思考[J].中国实用儿科杂志,2014,29(8):561-564.
[3] Ford G,Lafranchi SH.Screening for congenital hypothyroidism:a worldwide view of strategies[J].Best Pract Res Clin Endocrinol Metab,2014,28(2):175-187.
[4] Shibata N,Hasegawa Y,Yamada K,et al.Diversity in the incidence and spectrum of organicacidemias,fatty acid oxidation disorders,and amino acid disorders in Asian countries:Selective screening vs.expanded newborn screening[J].Mol Genet Metab Rep,2018,16:5-10.
[5] 赵正言.新生儿遗传代谢病筛查进展[J].中国实用儿科杂志,2014,29(8):586-589.
[6] 叶军.新生儿遗传代谢病筛查发展及诊治规范[J].中国计划生育和妇产科,2016,8(1):6-13.
[7] Tsyvian PB,Bashmakova NV,Kovtun OP,et al.Maternal and newborn infants amino acid concentrations in obese women born themselves with normal and small for gestational age birth weight[J].J Dev Orig Health Dis,2015,6(4):278-284.
[8] Evans RW,Powers RW,Ness RB,et al.Maternal and fetal amino acid concentrations and fetal outcomes during pre-eclampsia[J].Reproduction,2003,125(6):785-790.
[9] 郭方,王淮燕,王慧艳,等.妊娠期糖尿病对新生儿氨基酸水平的影响[J].中华围产医学杂志,2018,21(10):673-677.
[10] Gallo LA,Barrett HL,Dekker NM.Review:placental trans-port and metabolism of energy substrates in maternal obesity and diabetes[J].Placenta,2017,54:59-67.
[11] Jansson T,Ekstrand Y,Bjorn C,et al.Alterations in the activity of placental amino acid transporters in pregnancies complicated by diabetes[J].Diabetes,2002,51(7):2214-2219.
[12] Pohlandt F.Plasma amino acid concentrations in umbilical cord vein and artery of newborn infants after elective cesarean section or spontaneous delivery[J].J Pediatr,1978,92(4):617-623.
[13] Ryckman KK,Berberich SL,Shchelochkov OA,et al.Clinical and environmental influences on metabolic biomarkers collected for newborn screening[J].Clin Biochem,2013,46(1-2):133-138.
[14] Wilson K,Hawken S,Ducharme R,et al.Metabolomics of prematurity:analysis of patterns of amino acids,enzymes,and endocrine markers by categories of gestational age[J].Pediatr Res,2014,75(2):367-373.
[15] 易芳,王玲,王梅,等.胎龄联合出生体重对新生儿遗传代谢病相关代谢物的影响[J].中国当代儿科杂志,2018,20(5):352-357.
[16] Atzori L,Antonucci R,Barberini L,et al.1H NMR-based metabolomic analysis of urine from preterm and term neonates[J].Front Biosci (Elite Ed),2011,3:1005-1012.
[17] Kelleher AS,Clark RH,Steinbach M,et al.The influence of amino-acid supplementation,gestational age and time on thyroxine levels in premature neonates[J].J Perinatol,2008,28(4):270-274.
[18] Clark RH,Chace DH,Spitzer AR.Effects of two different doses of amino acid supplementation on growth and blood amino acid levels in premature neonates admitted to the neonatal intensive care unit:a randomized,controlled trial[J].Pediatrics,2007,120(6):1286-1296.
[19] 蔡娜,谢云,马晓萍,等.串联质谱技术在新生儿遗传代谢病筛查中的临床应用研究[J].现代生物医学进展,2017,17(31):6083-6087.
[20] 董丽萍,牟凯,朱峰,等.山东鲁中地区新生儿体内游离肉碱及酰基肉碱的变化特点[J].中国妇幼保健,2016,31(13):2671-2675.
[21] Pohlandt F.Plasma amino acid concentrations in newborn infants breast-fed ad libitum[J].J Pediatr,1978,92(4):614-616.
[22] 郭元芳,李改杰,田丽萍,等.串联质谱筛查新生儿遗传代谢疾病中氨基酸浓度波动性及其影响因素分析[J].中国妇幼保健,2018,33(24):5886-5889.
[23] De Jesus VR,Chace DH,Lim TH,et al.Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry[J].Clin Chim Acta,2010,411(9-10):684-689.
[24] Tang H,Feuchtbaum L,Neogi P,et al.Damaged goods?:an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California[J].Genet Med,2016,18(3):259-264.
[25] Morris M,Fischer K,Leydiker K,et al.Reduction in newborn screening metabolic false-positive results following a new collection protocol[J].Genet Med,2014,16(6):477-483.
[26] Slaughter JL,Meinzen-Derr J,Rose SR,et al.The effects of gestational age and birth weight on false-positive newborn-screening rates[J].Pediatrics,2010,126(5):910-916.
[27] 章晓燕,王薇,赵海建,等.我国2015年新生儿遗传代谢病筛查指标切值的调查[J].临床检验杂志,2016,34(9):706-709.
[28] 罗超,陈少科,黄莹,等.广西地区新生儿甲状腺功能低下可疑阳性的召回情况分析及对策[J].中国儿童保健杂志,2014,22(7):746-748.
[29] 曹慧,张翠琼,孙伟,等.阶梯式宣教对新生儿代谢性疾病筛查初筛阳性召回率的影响[J].现代医院,2016,16(9):1402-1404.